1
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
2
|
(HPO:0002667)
|
Nephroblastoma |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
6
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
7
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
10
|
(HPO:0000842)
|
Hyperinsulinemia |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
11
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
12
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
13
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
14
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
15
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
16
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
17
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
18
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
19
|
(HPO:0000187)
|
Broad alveolar ridges |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
20
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
21
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
22
|
(HPO:0011262)
|
Crimped helix |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
23
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
24
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
25
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
26
|
(HPO:0000194)
|
Open mouth |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
27
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
28
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
29
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
30
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
31
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
32
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
33
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
34
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
35
|
(HPO:0001541)
|
Ascites |
|
|
|
|
94 / 7739
|
36
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
37
|
(HPO:0002580)
|
Volvulus |
|
|
|
|
10 / 7739
|
38
|
(HPO:0003271)
|
Visceromegaly |
|
|
|
|
8 / 7739
|
39
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
40
|
(HPO:0004510)
|
Pancreatic islet-cell hyperplasia |
|
|
|
|
9 / 7739
|
41
|
(HPO:0005247)
|
Hypoplasia of the abdominal wall musculature |
|
|
|
|
4 / 7739
|
42
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
43
|
(HPO:0008643)
|
Nephroblastomatosis |
|
|
|
|
2 / 7739
|
44
|
(HPO:0008696)
|
Renal hamartoma |
|
|
|
|
2 / 7739
|
45
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
46
|
(HPO:0011341)
|
Long upper lip |
|
|
|
|
5 / 7739
|
47
|
(HPO:0011611)
|
Interrupted aortic arch |
|
|
|
|
10 / 7739
|
48
|
(HPO:0100880)
|
Nephrogenic rest |
|
|
|
|
3 / 7739
|
49
|
(HPO:0200116)
|
Distal ileal atresia |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Large birth size |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Round facial fullness |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Anteverted upper lip |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Bilateral renal hamartomas |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Upsweep of anterior scalp hair |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Fetal ascites without hydrops |
|
|
|
|
1 / 7739
|
56
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
57
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
58
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
59
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
60
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|